An autopsy report of a rare pediatric lung tumor: pleuropulmonary blastoma

An autopsy report of pleuropulmonary blastoma (PPB) is described in a two-and-a-half-year-old male child who died within a few days of starting chemotherapy. Autopsy revealed a large tumor almost occupying the whole of left hemithorax with widespread extension to pleura. The diagnosis was confirmed to be PPB, type III on autopsy.     

Classic biphasic pulmonary blastoma with brain and axillary metastases: a case report with molecular analysis and review of literature

Pulmonary blastoma is a rare series of malignant lung tumor, which contains three categories: classic biphasic pulmonary blastoma, pluropulmonary blastoma, and well-differentiated fetal adenocarcinoma. In this study, a 19-year old female suffering with classic biphasic pulmonary blastoma and metastases in brain and axilla was presented with special interest in clinicopathological presentations, immunohistochemical features, and molecular characterizations. However, this case was misdiagnosed initially with small biopsy specimen. Comprehensive management should be used for the treatment of this malignancy.     

Embryonal rhabdomyosarcoma of the uterine cervix: a report of 14 cases and a discussion of its unusual clinicopathological associations

Embryonal rhabdomyosarcoma of the uterine cervix is an uncommon presentation of the most common soft-tissue sarcoma in the first decades of life. Unlike embryonal rhabdomyosarcoma in other anatomic sites, in which 70-80% of cases present before 9 years of age, the average age in our series of 14 cervical cases was 12.4 years (median, 13 years), with an age range of 9 months to 32 years at diagnosis. Of the 14 cases, 12 presented as a polyp at the cervical os; two patients had an infiltrative mass in the cervix without a botryoid polyp. The polyps measured 1.5-5?cm and all had the histopathological pattern of the sarcoma botryoides variant of embryonal rhabdomyosarcoma, with condensations of primitive and differentiated rhabdomyoblasts beneath the surface epithelium and around endocervical glands. Nodules of benign-appearing cartilage were present in the stroma of six cases (43%). One of the embyronal rhabdomyosarcomas from the youngest patient, 9 months old, also had a distinctive microscopic focus of immature tubular profiles in a primitive stroma; these tubules expressed epithelial and neuroendocrine markers. Two patients had a pleuropulmonary blastoma, one diagnosed 9 years before the embryonal rhabdomyosarcoma of the cervix and the other recognized synchronously. This latter 9-year old had a DICER1 germline mutation. One patient presented with hirsutism and had a Sertoli-Leydig cell tumor, an incidentally detected cervical embryonal rhabdomyosarcoma, and nodular hyperplasia of the thyroid. Although a pleuropulmonary blastoma was not documented in the latter patient, ovarian sex-cord stromal tumors and nodular hyperplasia of the thyroid are manifestations of the pleuropulmonary blastoma family tumor and dysplasia syndrome (OMIM 601200). Embryonal rhabdomyosarcoma of the cervix must be distinguished from other rare entities, including adenosarcoma, malignant mixed Mullerian tumor and low-grade stromal sarcoma, as the former has a better prognosis; 12 of our 14 patients remain disease-free following conservative surgery and chemotherapy. Our study suggests that cervical embryonal rhabdomyosarcoma may be another pathological manifestation in the spectrum of extrapulmonary pathology in the setting of pleuropulmonary blastoma.     

胸膜肺母细胞瘤1例报道及文献复习

目的：阐明胸膜肺母细胞瘤的病理形态特征及鉴别诊断要点。方法：对1例小儿胸膜肺母细胞瘤进行了组织形态学,免疫组织化学分析。结果：胸膜肺母细胞瘤是一种纯间质性恶性肿瘤,好发于12岁以下的儿童及婴幼儿,起源于肺、胸膜或纵隔的原始细胞,镜下可见原始胚胎性的圆形或短梭形细胞,瘤细胞有呈巢趋势,酷似肾母细胞瘤,肝母细胞瘤等肿瘤原始胚基成分,免疫组化未见有上皮细胞及其他间叶成分标志的表达,另一种成分为梭形细胞,除表现为纤维肉瘤特点外,还向横纹肌肉瘤分化,结论：胸膜肺母细胞瘤是一种极为罕见的恶性肿瘤,应与肺母细胞瘤,原始神经外胚叶肿瘤及胚胎性横纹肌肉瘤等鉴别。     

An unusual embryonal tumor of the nasal cavity in a neonate--a nasal blastoma? A clinical, histologic, and ultrastructural study

We report the clinicopathological and ultrastructural features of a primitive embryonal tumor which occurred as a polypoid mass in the nasal cavity of a newborn infant. Its primitive-appearing, glycogen-rich, small round cells exhibited epithelial characteristics histologically, immunohistochemically, and ultrastructurally. The tumor was initially diagnosed as embryonal carcinoma because of evidence for endodermal differentiation and lack of specific features of other types of small round cell tumors of childhood. However, it did not have the characteristic features of endodermal sinus tumor nor the anaplasia of the adult type of embryonal carcinoma. It had some resemblance to embryonic somatic tissues and the blastemal component of some of the primitive tumors of childhood. Because of its unique morphological appearance, which has never been reported, and its relatively indolent behavior after chemotherapy and radiotherapy, we believe that this is a distinctive primitive teratoid tumor which may be classified as nasal blastoma.     

Infant pleuropulmonary blastoma: report of a rare case and review of literature

In infants, pleuropulmonary blastoma is a rare but aggressive tumor. The typical histopathological presentation includes the aggregation of malignant primitive small cells, usually observed in sheets. So as to provide proper and timely treatment, the differential diagnosis includes pulmonary blastoma, sarcomatoid mesothelioma, fetal rhabdomyoma, synovial sarcoma, and primitive neuroectodermal tumor. Herein, we will present one male pediatric patient with pleuropulmonary blastoma. The patient was a 4-month-old male infant, who had a prolonged cough and dyspnea for 4 months that was complicated by cyanosis for 3 days. A physical examination revealed a solid mass in the right lung that was sized 9.0 × 6.0 × 4.0 cm and had a grayish-white cross section. The boundary between the mass and lung tissue was clear; the mass already occupied a great portion of the lung. A microscopic examination suggested that the tumor was composed of round or orbicular-ovate primitive fetal cells. The cells were medium sized, having little cytoplasm, but had a clearly visualized nucleolus and active karyokinesis. The tumor mass was biphasic, namely, fasciculated sarcoma (composed of spindle-shaped cells and short spindle-shaped cells) and malignant fibrous histiocytoma containing well-differentiated cartilage islands or cartilaginous nodes. Immunohistochemistry was performed for further detection: vimentin (+), S-100 protein (+), CK (AE1/AE3), EMA and TTF-1 in residual epithelial components (+), NSE (focal +), SMA (mesenchymal cells, focal +), CD99 (weak +), Bcl-2 (weak +), desmin (-), myoglobin (-), calretinin (-), calponin (-), FLI (-), MyoD-1 (-), and CD34 (-). Pleuropulmonary blastoma is extremely rare but highly aggressive neoplasm in children. Its typical histopathological presentation is the aggregation of primitive malignant small cells. Combining imaging and histopathological examinations and clinical data should help in determining the diagnosis of pleural pulmonary blastoma.     

Fine-needle aspiration cytology of pleuropulmonary blastoma: Case report and review of the literature

This report describes the fine-needle aspiration (FNA) cytology of a case of pleuropulmonary blastoma in a 3-yr-9-mo-old male. Pleuropulmonary blastoma is considered by most authors to be distinct from pulmonary blastoma and is a rare malignant tumor of the intrathoracic cavity. FNA smears were cellular with numerous small ovoid to spindled cells with oval to elliptical nuclei exhibiting finely granular chromatin and inconspicuous nucleoli. The cytoplasm was scant and cosinophilic with indistinct borders. Focal chondroid material and blastema-like cells were noted. The differential diagnosis suggested by the cytologic findings included rhabdomysosarcoma, teratoma, neuroblastoma, malignant mesenchymoma, pleuropulmonary blastoma, and metastatic tumor. To our knowledge, this is the first report of the cytology of this tumor. Diagn. Cytopathol. 16:336–340, 1997. © 1997 Wiley-Liss, Inc.     

Fine-needle aspiration cytology of pulmonary adenocarcinoma of fetal type: report of a case with immunohistochemical and ultrastructural studies.

This report describes the fine-needle aspiration (FNA) cytology of a case of adenocarcinoma resembling fetal lung in a 53-yr-old male, a very uncommon malignant tumor of the lung that is similar to an early stage of lung differentiation. FNA smears revealed relatively small, fairly uniform tumor cells appearing as cohesive cell groups and scattered, isolated cells, some of them showing a rosette or acinus pattern. In addition, clusters of larger cells with eosinophilic cytoplasm and prominent nucleoli existed contiguously with the small cells or separately. The possibilities of an unusual type of adenocarcinoma, carcinoid tumor, and pulmonary blastoma were suggested by the cytologic findings. Immunohistochemical studies performed on a resected tumor tissue showed immunoreactivity for alpha-fetoprotein, neuron-specific enolase, and somatostatin, and endocrine-type granules were found ultrastructurally. This type of adenocarcinoma is considered to have a histogenesis similar to that of pulmonary blastoma. To our knowledge this is the first reported case in the cytologic literature.     

Nasal Blastoma: A Light and Electron Microscopic Study

The first light and electron microscopic study of a nasal blastoma is reported. Analogous to a pulmonary blastoma, the tumor is composed of well-differentiated squamous and glandular epithelial elements surrounded by a spindle cell stroma. The spindle stromal cell is a myofibroblast. Eighteen months after complete surgical removal of the tumor and radiation therapy, the patient is clinically free of disease.     

Pulmonary blastoma in a child: Report of a case with cytological findings

Pulmonary blastoma is an uncommon tumour. It constitutes <0.1% of all resected lung cancers. It is even more rare in children with only a few case reports describing this entity in them. Pulmonary blastoma should not be confused with pleuropulmonary blastoma which is a paediatric lung tumour with different morphology and better outcome. Here we take the opportunity of describing pulmonary blastoma in a 3 years old child along with its cytological findings.     

Pulmonary blastoma with germ cell (yolk sac) differentiation: report of two cases.

Pulmonary blastoma is a rare lung neoplasm of disputed histogenesis and variable biologic behavior. Typical cases contain both epithelial and mesenchymal tissues, and a variety of patterns of differentiation have been described. While expression of oncofetal antigens in these tumors has been noted rarely, a coexisting component of germ cell tumor has not been reported previously. We describe the clinical and pathologic features of two cases of pulmonary blastoma having alpha-fetoprotein production and histologic areas of yolk sac tumor. We also report the finding of immunohistochemical staining of fetal lung tissue for alpha-fetoprotein.     

Pulmonary blastoma, a true congenital neoplasm

An infant, after a difficult delivery, had X-ray shadowing in the right lung. After 32 days sudden death occurred, a pulmonary blastoma being found at autopsy. The controversy over whether this tumour is a blastoma or a carcinosarcoma is discussed and arguments are advanced for acceptance of the designation pulmonary blastoma when the tumour occurs in infancy and childhood. When the equivalent tumour occurs in adults with or without the addition of areas of carcinoma and/or sarcoma, the title 'mixed tumour of lung' should replace the term carcinosarcoma.     

Pleuropulmonary blastoma in a young adult presenting as a ruptured cystic teratoma in radiology

Pleuropulmonary blastoma (PPB) is a rare malignant dysontogenetic neoplasm primarily affecting children and is characterized histologically by a variably mixed blastematous and sarcomatous patterns. We herein report a very exceptional adult case of PPB. A 21-yr-old male patient presented with a left chest pain of two weeks' duration. A computed tomography scan revealed a large, multicystic tumor occupying the left lower hemithorax, leading to the impression of a ruptured mediastinal cystic teratoma. A thoracotomy for resection of the tumor was performed. On histologic examination, the tumor consisted of cystic walls and associated solid lesions which showed undifferentiated blastemal tissues with focal fibrosarcomatous and rhabdoid features. Immunohistochemically the tumor cells only showed diffuse strong positivity for vimentin. The histologic findings corresponded to a type II PPB. The authors suggest that PPB, especially of type I or II, should be included in the radiologic differential diagnosis of mediastinal cystic neoplasms in a young adult.     

Pulmonary blastoma and related primary malignant pulmonary neoplasms

During the last decade more diagnoses of pulmonary blastoma were made worldwide than in previous decades. Whether this increased frequency is caused by better diagnostic procedures (immunochemistry, electron microscopy) or by the growing number of patients having this neoplasm is difficult to distinguish. We present controversies concerning pulmonary blastoma and related biphasic primary pulmonary neoplasms. We agree with Wick et al. that cases in children (called pleuropulmonary blastoma) should be differentiated from cases in adults, which show many similarities to bronchogenic lung cancer. However, our opinion is that the new classification system proposed by Wick et al. does not take into account cases of PB in young adults with intropulmonary growth of the tumor.     

The cytomorphology of pleuropulmonary blastoma

Pleuropulmonary blastoma is a rare, primitive primary neoplasm of the thorax in young children. The tumor, which is often but not always associated with cystic lung lesions, may arise in pulmonary parenchyma, the mediastinum, and pleura. Histologically, it is characterized by a biphasic neoplastic population of undifferentiated-appearing small round cells and larger spindle-shaped cells. A proportion of these cancers may also manifest more specific mesenchymal differentiation. In contrast to the pulmonary blastoma of adults, a malignant epithelial component does not occur. We present herein the third known case of a fine needle aspiration biopsy of a pleuropulmonary blastoma in a 5-year-old girl. The smears were moderately cellular and included an admixture of the characteristic small ovoid blastemal elements and scattered spindled mesenchymal tumor cells.     

Blastomatous tumor with teratoid features of nasal cavity: report of a case and review of the literature

A case of blastomatous tumor with teratoid features is presented. The polypoid mass was observed in the left nasal cavity of a 72-year-old man. Histologically, the lesion was composed of neuroepithelial cells with blastomatous appearance, cystic squamous nests filled with keratin materials, many mucous glands, complex tubular and glandular structures with edematous fibroblastic stroma. Sinonasal neoplasms including teratoid components and immature neuroepithelium are exceedingly rare. We suggest that the term 'immature teratoma' is more suitable than blastoma or blastomatous tumor when there is no carcinomatous or sarcomatous component besides the immature neuroepithelium and teratoid elements.     

后肾性腺瘤3例报道并文献复习

目的：探讨后肾性腺瘤的病理形态学特征及诊断要点。方法：采用常规HE染色及免疫组化染色，并复习文献。结果：组织学上主要由紧密而规则排列 的圆形小管和含有圆形细胞巢的实性区相间排列，偶见肾小球样结构。免疫组化以Leu7、vimetntin、keratin阳性及EMA阴性为特点。结论：后肾性腺瘤是肾胚胎残留发生的罕见良性肿瘤，常被误诊为恶性肿瘤，故与肾母细胞瘤、乳头状肾细胞癌鉴别尤为重要。     

Gain of chromosome 8q is a frequent finding in pleuropulmonary blastoma.

Pleuropulmonary blastomas are rare malignant intrathoracic tumors of early childhood. They appear as a pulmonary- and/or pleural-based mass and their pathogenesis and relationship to other pediatric solid tumors is not well understood. In this study, paraffin-embedded material of five cases of pleuropulmonary blastoma was analyzed for genetic alterations by comparative genomic hybridization and five genetic loci by fluorescence in situ hybridization. Comparative genomic hybridization identified aberrations in all pleuropulmonary blastomas, including four amplifications in three tumors at chromosomes 5q33-34, 11q22.2-ter, 15q25-ter, and 19q11-13.2. The most frequent DNA gains involved 8q11-22.2 (four cases) and 20q (two cases), whereas the most common losses included 9p21-24 (two cases) and 11p14 (three cases). Chromosome 8 gains were confirmed by fluorescent in situ hybridization, resulting in the detection of up to five copies of chromosome 8 centromeres per nucleus. In the two surviving patients, chromosome 8 gains were the only genetic abnormality, suggesting that this might be an early event in pleuropulmonary blastoma carcinogenesis. The identification of new genetic alterations as well as the confirmation of previously reported ones (especially 8q gains) in pleuropulmonary blastoma should help to improve our understanding of both the molecular mechanisms underlying the tumorigenesis of pleuropulmonary blastoma and the relationship of pleuropulmonary blastoma with other pediatric tumors.     

Fine needle aspiration in intraocular metastasis from pleuropulmonary blastoma. A case report and a review of the literature

Pleuropulmonary blastoma (PPB) is a rare primitive intrathoracic malignant neoplasm that occurs almost exclusively in children and adolescents. PPB is classified into three types according to the presence of cystic and solid areas. We report a case of PPB with an intraocular metastasis diagnosed by fine needle aspiration (FNA): 3‐year‐old female was treated for type II PPB by neoadjuvant chemotherapy and surgery. Four years later, she presented with an intraocular lesion. To differentiate between metastasis or other malignancy, a transcleral FNA was performed and showed two cellular populations represented by roundish malignant cells and spindle‐shaped cells. The patient was treated with chemotherapy and diode laser ablation. A year later, the patient had enucleation and rare residual cells were found on the histological specimen. Patient remains disease‐free 66 months after the last surgical treatment. Diagn. Cytopathol. 2017;45:156–160. © 2016 Wiley Periodicals, Inc.     

Teratoma of the Sellar Region: a Case Report

The case report describes a teratoma of the sellar region with a gland forming and an immature, relatively clear undifferentiated component without signs of anaplasia. Both components express TTF-1 indicating their presumable origin in the neurohypophysis as part of the circumventricular organs. The differential diagnosis includes pituitary adenoma and spindle cell oncocytoma with inclusion of Rathke’s cleft cyst, pituitary blastoma, yolk sac tumor, and other germ cell tumors. The prognosis is the same as in the immature teratomas in the gonads, specifically unclear.